ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828762786
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449942
ClinVar RCV Id:
RCV000523025
RCV000798208
RCV001707718
RCV002395252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Gly484Asp
CA1713175
NM_001378454.1:c.1451G>A