ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA195309
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54174
ClinVar RCV Id:
RCV000047392
RCV000083168
RCV000166228
RCV001719800
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asn417Ser
CA000822
NM_007294.4:c.1250A>G