ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573089725
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1310290
ClinVar RCV Id:
RCV001767404
RCV002295347
RCV003158920
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1321Phe
CA10594040
NM_007300.4:c.3962C>T