ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689771
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479214
ClinVar RCV Id:
RCV000568992
RCV001858077
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser531Phe
CA10598562
NM_007297.4:c.1592C>T