ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828762548
Gene: ALMS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
377135
ClinVar RCV Id:
RCV000427541
RCV001078806
RCV004022274
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365383.1:p.Ser274Asn
CA1712994
NM_001378454.1:c.821G>A