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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:
CA2017888478
Gene: PLBD1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1945264112
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.14507256G>A , CM000674.2:g.14507256G>A
GRCh38
NC_000012.11:g.14660190G>A , CM000674.1:g.14660190G>A
GRCh37
NC_000012.10:g.14551457G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000240617.10:c.1187-138C>T
MANE Select
ENSP00000240617.5:n.1187-138C>T
ENST00000240617.9:c.1187-138C>T
ENSP00000240617.5:n.1187-138C>T
NM_024829.5:c.1187-138C>T
NP_079105.4:n.1187-138C>T
NM_024829.6:c.1187-138C>T
MANE Select
NP_079105.4:n.1187-138C>T
Search 100 bp 5'
Search 100 bp 3'