ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA342729
Gene: AP4M1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
30264
ClinVar RCV Id:
RCV000023191
RCV001849279
RCV002272028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004713.2:p.Glu193Lys
CA342728
NM_004722.4:c.577G>A