ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA166063
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000048116
RCV000112040
RCV000130262
RCV000212172
ClinVar Variation:
54812
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Gly1087Ala
CA002109
NM_007294.4:c.3260G>C