ClinGen Allele Registry
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Canonical Allele Identifier:
PA645495967
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
373524
ClinVar RCV Id:
RCV000413690
RCV000544449
RCV001569636
RCV002379273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055935.4:p.Glu3414Gly
CA1714949
NM_015120.4:c.10241A>G