ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828765210
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373269
ClinVar RCV Id:
RCV000412739
RCV000860665
RCV001729572
RCV002411280
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Ala2607Gly
CA1714355
NM_001378454.1:c.7820C>G