ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829693340
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
156192
ClinVar RCV Id:
RCV000144209
RCV000581538
RCV003529994
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr1199Ala
CA002394
NM_007297.4:c.3595A>G