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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1607949736
Gene: F13A1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1760260059
gnomAD v4:
6-6145476-TG-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.6145479del , CM000668.2:g.6145479del
GRCh38
NC_000006.11:g.6145712del , CM000668.1:g.6145712del
GRCh37
NC_000006.10:g.6090711del
NCBI36
NG_008107.1:g.180215del , LRG_549:g.180215del
Transcript Alleles
HGVS
Amino-acid change
ENST00000264870.8:c.*142del
MANE Select
ENSP00000264870.3:n.*142del
ENST00000264870.7:c.*142del
ENSP00000264870.3:n.*142del
NM_000129.3:c.*142del , LRG_549t1:c.*142del
NP_000120.2:n.*142del
XM_006715010.2:c.*142del
XP_006715073.1:n.*142del
XM_011514342.1:c.*142del
XP_011512644.1:n.*142del
NM_000129.4:c.*142del
MANE Select
NP_000120.2:n.*142del
Search 100 bp 5'
Search 100 bp 3'