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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:
CA2682147496
Gene: HOXA13
HGNC
NCBI
Linked Data
gnomAD v4:
7-27198082-G-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.27198082G>A , CM000669.2:g.27198082G>A
GRCh38
NC_000007.13:g.27237701G>A , CM000669.1:g.27237701G>A
GRCh37
NC_000007.12:g.27204226G>A
NCBI36
NG_008181.1:g.7025C>T
NG_008181.2:g.7025C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000649031.1:c.*116C>T
MANE Select
ENSP00000497112.1:n.*116C>T
ENST00000222753.5:c.*116C>T
ENSP00000222753.4:n.*116C>T
NM_000522.4:c.*116C>T
NP_000513.2:n.*116C>T
XM_011515344.1:c.*116C>T
XP_011513646.1:n.*116C>T
NM_000522.5:c.*116C>T
MANE Select
NP_000513.2:n.*116C>T
Search 100 bp 5'
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