ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915998221
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54609
ClinVar RCV Id:
RCV000047888
RCV000111897
RCV000164741
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser864Ala
CA001702
NM_007300.4:c.2590T>G