ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828765219
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2154172
ClinVar RCV Id:
RCV003069145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Arg2616Gln
CA347265954
NM_001378454.1:c.7847G>A