ClinGen Allele Registry
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Canonical Allele Identifier:
PA645495758
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
403935
ClinVar RCV Id:
RCV000462849
RCV000523577
RCV001195325
RCV002348257
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Gly1231Glu
CA1713573
NM_015120.4:c.3692G>A