ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA327986
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55478
ClinVar RCV Id:
RCV000577593
RCV001254348
RCV001077078
RCV003298097
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Pro1749Ala
CA003386
NM_007294.4:c.5245C>G