ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828764723
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
235595
ClinVar RCV Id:
RCV000224895
RCV000445367
RCV001079332
RCV001729468
RCV002365167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Asp2155Gly
CA1714067
NM_001378454.1:c.6464A>G