ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828764090
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
403938
ClinVar RCV Id:
RCV000493173
RCV001080781
RCV001821220
RCV002339109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Arg1629Trp
CA1713784
NM_001378454.1:c.4885C>T